Article

Pediatric Cardiology

, Volume 25, Issue 4, pp 411-413

First online:

EYA1 Mutation in a Newborn Female Presenting with Cardiofacial Syndrome

  • N. ShimasakiAffiliated with Department of Pediatrics, Shimizu City Hospital
  • , K. WatanabeAffiliated withDepartment of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582
  • , M. HaraAffiliated with Department of Pediatrics, Shimizu City Hospital
  • , K. KosakiAffiliated withDepartment of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582 Email author 

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Abstract

The combination of an asymmetric crying face and heart defect has been termed cardiofacial syndrome. This “syndrome” is etiologically heterogeneous and a subset of patients have 22q11.2 deletions. We present a female with Cayler’s cardiofacial syndrome phenotype who had a frameshift mutation of the EYA1 gene. We conclude that EYA1 mutation represents a previously undescribed cause of cardiofacial syndrome.

Keywords

EYA1 Mutation analysis Asymmetry Depressor anguli oris 22q deletion Cardiofacial syndrome